Canonical Allele Identifier: CA2658834292

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 3018640
• ClinVar RCV Id: RCV003879287
• gnomAD v4: 2-43894647-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894647G>T , CM000664.2:g.43894647G>T	GRCh38
NC_000002.11:g.44121786G>T , CM000664.1:g.44121786G>T	GRCh37
NC_000002.10:g.43975290G>T	NCBI36
NG_008247.1:g.106359C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.531-18C>A
ENST00000681993.1:n.1453-18C>A
ENST00000682154.1:n.1335-18C>A
ENST00000682303.1:c.*3612-18C>A	ENSP00000508325.1:n.*3612-18C>A
ENST00000682308.1:c.3826-18C>A	ENSP00000507056.1:n.3826-18C>A
ENST00000682434.1:n.3438C>A
ENST00000682480.1:c.3919-18C>A	ENSP00000508344.1:n.3919-18C>A
ENST00000682546.1:c.3898-18C>A	ENSP00000508188.1:n.3898-18C>A
ENST00000682585.1:c.*29-18C>A	ENSP00000506885.1:n.*29-18C>A
ENST00000682607.1:c.2644-18C>A
ENST00000682612.1:c.752+1987C>A
ENST00000682779.1:c.3892-18C>A	ENSP00000507947.1:n.3892-18C>A
ENST00000682885.1:c.3856-18C>A	ENSP00000508036.1:n.3856-18C>A
ENST00000682933.1:n.4101-18C>A
ENST00000683002.1:c.753-18C>A
ENST00000683072.1:n.4485-18C>A
ENST00000683080.1:n.1520-18C>A
ENST00000683096.1:n.2342-18C>A
ENST00000683125.1:c.4009-18C>A	ENSP00000507939.1:n.4009-18C>A
ENST00000683213.1:c.3904-18C>A	ENSP00000507751.1:n.3904-18C>A
ENST00000683220.1:c.3931-18C>A	ENSP00000507151.1:n.3931-18C>A
ENST00000683329.1:n.4704-18C>A
ENST00000683346.1:c.*3776-18C>A	ENSP00000507458.1:n.*3776-18C>A
ENST00000683409.1:n.2433-18C>A
ENST00000683459.1:n.4488-18C>A
ENST00000683590.1:c.3574-18C>A	ENSP00000506820.1:n.3574-18C>A
ENST00000683623.1:c.3808-18C>A	ENSP00000507702.1:n.3808-18C>A
ENST00000683796.1:c.*3698-18C>A	ENSP00000508221.1:n.*3698-18C>A
ENST00000683833.1:c.3817-18C>A	ENSP00000506852.1:n.3817-18C>A
ENST00000683994.1:c.*14-18C>A	ENSP00000507181.1:n.*14-18C>A
ENST00000684290.1:c.*1362-18C>A	ENSP00000507243.1:n.*1362-18C>A
ENST00000684306.1:c.*3814-18C>A	ENSP00000508384.1:n.*3814-18C>A
ENST00000684383.1:c.*3539-18C>A	ENSP00000506863.1:n.*3539-18C>A
ENST00000684418.1:n.5082-18C>A
ENST00000684433.1:n.285-18C>A
ENST00000684454.1:n.7747C>A
ENST00000684619.1:c.*3773-18C>A	ENSP00000508088.1:n.*3773-18C>A
ENST00000684743.1:n.6646-18C>A
ENST00000260665.12:c.3901-18C>A MANE Select	ENSP00000260665.7:n.3901-18C>A
ENST00000260665.11:c.3901-18C>A	ENSP00000260665.7:n.3901-18C>A
ENST00000419884.5:c.142-18C>A	ENSP00000414207.1:n.142-18C>A
ENST00000463456.5:n.2944-18C>A
NM_133259.3:c.3901-18C>A	NP_573566.2:n.3901-18C>A
XM_006711915.2:c.3823-18C>A	XP_006711978.1:n.3823-18C>A
XM_011532473.1:c.3826-18C>A	XP_011530775.1:n.3826-18C>A
XM_011532474.1:c.3901-18C>A	XP_011530776.1:n.3901-18C>A
XM_017003117.1:c.3748-18C>A	XP_016858606.1:n.3748-18C>A
XR_002958896.1:n.3943-18C>A
NM_133259.4:c.3901-18C>A MANE Select	NP_573566.2:n.3901-18C>A